African-American (AA) women under 50 years of age have the highest rate of new cases of breast cancer in the nation and tend to present at an earlier age with larger tumors and more advanced stage disease. This excess in breast cancer incidence among young AA women may be due to increased exposure to known risk factors, and/or a decreased exposure to protective factors, or due to genetic factors. Extensive studies designed to detect a possible molecular basis for this difference have not been reported.
A commercially available service for assessing a woman's risk of acquiring breast cancer involves detecting mutations in two genes—BRCA1 and BRCA2. This service is relatively expensive as it involves complete sequencing of these genes. Other methods for screening for BRCA1 and BRCA2 mutations include single stranded conformational polymorphism (SSCP) analysis and selected DNA sequencing of gene variants, or DHPLC and DNA sequencing of gene variants. These are labor-intensive, and would therefore likely be expensive if commercially implemented. Accordingly what is needed is a compilation of BRCA1 and BRCA2 mutations that could be used for screening for specific mutations/variants in subjects, particularly AA women.